Incidental Mutation 'IGL01368:Or11h23'
ID 76003
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or11h23
Ensembl Gene ENSMUSG00000060084
Gene Name olfactory receptor family 11 subfamily G member 23
Synonyms GA_x6K02T2PMLR-6454789-6455712, Olfr748, MOR106-9P
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL01368
Quality Score
Chromosome 14
Chromosomal Location 50947789-50948712 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50948450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 221 (V221A)
Ref Sequence ENSEMBL: ENSMUSP00000149491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073561] [ENSMUST00000213101]
AlphaFold E9Q9Z0
Predicted Effect possibly damaging
Transcript: ENSMUST00000073561
AA Change: V221A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073251
Gene: ENSMUSG00000060084
AA Change: V221A

Pfam:7tm_4 31 307 1.6e-52 PFAM
Pfam:7tm_1 41 290 2.8e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213101
AA Change: V221A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,288,770 (GRCm39) D93E probably damaging Het
Adam22 T C 5: 8,177,411 (GRCm39) Y566C probably damaging Het
Atp8b3 G A 10: 80,370,063 (GRCm39) probably benign Het
Babam1 T A 8: 71,851,050 (GRCm39) D104E probably damaging Het
Bcl2a1a T A 9: 88,839,500 (GRCm39) W133R probably damaging Het
Ckm C T 7: 19,150,712 (GRCm39) Q184* probably null Het
Clk4 T A 11: 51,171,999 (GRCm39) Y246* probably null Het
Cyp3a57 T C 5: 145,305,878 (GRCm39) S121P probably damaging Het
Eif1ad15 C T 12: 88,287,858 (GRCm39) D132N unknown Het
Gm8011 T C 14: 42,287,831 (GRCm39) probably benign Het
Gpr153 T C 4: 152,367,451 (GRCm39) F434S probably benign Het
Gpr158 G T 2: 21,831,909 (GRCm39) W1003L probably damaging Het
Ighv5-9-1 T C 12: 113,700,010 (GRCm39) E34G probably damaging Het
Igkv16-104 G T 6: 68,402,594 (GRCm39) R2S possibly damaging Het
Map3k3 T C 11: 106,041,215 (GRCm39) F395L probably benign Het
Myof T A 19: 37,924,905 (GRCm39) T1161S probably damaging Het
Nlrp9a T C 7: 26,257,299 (GRCm39) S217P probably damaging Het
Nol9 T A 4: 152,142,848 (GRCm39) N687K probably benign Het
Or10ad1 T C 15: 98,105,381 (GRCm39) I295V probably damaging Het
Or2ag15 T C 7: 106,340,829 (GRCm39) E104G probably benign Het
Or8g33 A T 9: 39,337,476 (GRCm39) V297D probably damaging Het
Prss1l A G 6: 41,373,620 (GRCm39) D161G possibly damaging Het
Rrh T C 3: 129,602,618 (GRCm39) D229G probably benign Het
Sclt1 T C 3: 41,665,610 (GRCm39) T153A probably damaging Het
Slc41a1 G A 1: 131,766,862 (GRCm39) V127I probably damaging Het
Smarca2 C T 19: 26,751,694 (GRCm39) S214L possibly damaging Het
Tmem63a T C 1: 180,797,797 (GRCm39) V616A possibly damaging Het
Ubr1 A G 2: 120,771,612 (GRCm39) probably benign Het
Vmn1r228 A G 17: 20,996,774 (GRCm39) L248P probably benign Het
Zdhhc16 T A 19: 41,929,945 (GRCm39) probably null Het
Other mutations in Or11h23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02965:Or11h23 APN 14 50,948,653 (GRCm39) missense probably damaging 1.00
R0576:Or11h23 UTSW 14 50,948,661 (GRCm39) missense probably damaging 0.98
R1184:Or11h23 UTSW 14 50,948,071 (GRCm39) missense probably benign 0.01
R2129:Or11h23 UTSW 14 50,948,093 (GRCm39) missense probably damaging 0.99
R2895:Or11h23 UTSW 14 50,947,973 (GRCm39) missense probably damaging 0.99
R2896:Or11h23 UTSW 14 50,947,973 (GRCm39) missense probably damaging 0.99
R4017:Or11h23 UTSW 14 50,948,333 (GRCm39) missense probably benign 0.03
R5053:Or11h23 UTSW 14 50,947,968 (GRCm39) nonsense probably null
R5057:Or11h23 UTSW 14 50,948,669 (GRCm39) missense probably damaging 1.00
R5113:Or11h23 UTSW 14 50,948,371 (GRCm39) missense probably benign 0.00
R5294:Or11h23 UTSW 14 50,948,236 (GRCm39) missense probably benign 0.01
R5294:Or11h23 UTSW 14 50,947,900 (GRCm39) missense possibly damaging 0.95
R5499:Or11h23 UTSW 14 50,948,324 (GRCm39) missense probably damaging 1.00
R5582:Or11h23 UTSW 14 50,948,425 (GRCm39) missense probably damaging 1.00
R5727:Or11h23 UTSW 14 50,947,817 (GRCm39) missense possibly damaging 0.74
R6797:Or11h23 UTSW 14 50,948,563 (GRCm39) missense probably damaging 1.00
R7685:Or11h23 UTSW 14 50,948,215 (GRCm39) missense possibly damaging 0.95
R7717:Or11h23 UTSW 14 50,948,219 (GRCm39) missense probably damaging 1.00
R7778:Or11h23 UTSW 14 50,947,928 (GRCm39) missense possibly damaging 0.60
R8276:Or11h23 UTSW 14 50,948,287 (GRCm39) missense probably benign 0.28
R8839:Or11h23 UTSW 14 50,947,957 (GRCm39) missense possibly damaging 0.73
R9322:Or11h23 UTSW 14 50,948,507 (GRCm39) missense probably damaging 1.00
R9358:Or11h23 UTSW 14 50,947,802 (GRCm39) missense probably benign
Posted On 2013-10-07